Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Epidermolysis bullosa with pyloric atresia |
ITGB4 |
disease |
C1856934 |
GeneticVariation |
1 |
orphanet , disgenet |
Epidermolysis bullosa with pyloric atresia |
ITGB4 |
disease |
C1856934 |
GermlineCausalMutation |
1 |
orphanet , disgenet |
Epidermolysis bullosa with pyloric atresia |
ITGB4 |
disease |
C1856934 |
Biomarker |
1 |
orphanet , disgenet |
Epidermolysis bullosa with pyloric atresia |
ITGB4 |
disease |
C1856934 |
CausalMutation |
1 |
orphanet , disgenet |
Epidermolysis bullosa with pyloric atresia |
ITGA6 |
disease |
C1856934 |
Biomarker |
0.68 |
orphanet , disgenet |
Epidermolysis bullosa with pyloric atresia |
ITGA6 |
disease |
C1856934 |
GeneticVariation |
0.68 |
orphanet , disgenet |
Epidermolysis bullosa with pyloric atresia |
ITGA6 |
disease |
C1856934 |
GermlineCausalMutation |
0.68 |
orphanet , disgenet |
Epidermolysis bullosa with pyloric atresia |
PLEC |
disease |
C1856934 |
GeneticVariation |
0.34 |
disgenet |
Epidermolysis bullosa with pyloric atresia |
PLEC |
disease |
C1856934 |
Biomarker |
0.34 |
disgenet |
Epidermolysis bullosa with pyloric atresia |
GALK1 |
disease |
C1856934 |
CausalMutation |
0.1 |
disgenet |
Epidermolysis bullosa with pyloric atresia |
GALK1 |
disease |
C1856934 |
GeneticVariation |
0.1 |
disgenet |
Epidermolysis bullosa with pyloric atresia |
FN1 |
disease |
C1856934 |
GeneticVariation |
0.01 |
disgenet |
Epidermolysis bullosa with pyloric atresia |
NAT9 |
disease |
C1856934 |
Biomarker |
0.01 |
disgenet |
Epidermolysis bullosa with pyloric atresia |
BHLHE23 |
disease |
C1856934 |
GeneticVariation |
0.01 |
disgenet |
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